Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.I1096fs
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PRX

NM_181882.3:p.I1096fs

Associated Papers

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.

Citrigno L et al.

European Journal of Neurology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."